title: Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
abstract: OBJECTIVE
  The purpose of this study was to determine the prevalence of mutations in the GJB2 gene, the GJB6-D13S1830 deletion and the four common mitochondrial mutations (A1555G, A3243G, A7511C and A7445G) in a South African population.
  
  
  METHODS
  Using single-strand conformation polymorphism and direct sequencing for screening GJB2 mutation; Multiplex PCR Amplification for GJB6-D13S1830 deletion and Restriction Fragment-Length Polymorphism (PCR-RFLP) analysis for the four common mtDNA mutations. We screened 182 hearing impaired students to determine the frequency of these mutations in the population.
  
  
  RESULTS
  None of the reported disease causing mutations in GJB2 nor any novel pathogenic mutations in the coding region were detected, in contrast to the findings among Caucasians. The GJB6-D13S1830 deletion and the mitochondrial mutations were not observed in this group.
  
  
  CONCLUSIONS
  These results suggest that GJB2 may not be a significant deafness gene among sub-Saharan Africans, pointing to other unidentified genes as responsible for nonsyndromic hearing loss in these populations.
authors.affiliation: Department of Speech Pathology and Audiology, University of Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa; Department of Otorhinolaryngology, Polokwane/Mankweng Hospital Complex, Polokwane, Limpopo Province, South Africa.
authors.forename: Rosemary I
authors.initials: RI
authors.lastname: Kabahuma
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Ouyang
authors.forename: Li Lin
authors.initials: LL
authors.lastname: Du
authors.forename: Denise
authors.initials: D
authors.lastname: Yan
authors.forename: Tim
authors.initials: T
authors.lastname: Hutchin
authors.forename: Michele
authors.initials: M
authors.lastname: Ramsay
authors.forename: Claire
authors.initials: C
authors.lastname: Penn
authors.forename: Xue-Zhong
authors.initials: XZ
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D017954:Africa South of the Sahara / Q000453:epidemiology; D001299:Audiometry; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D034381:Hearing Loss / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D006320:Hearing Tests; D006801:Humans; D015994:Incidence; D008297:Male; D008403:Mass Screening; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018570:Risk Assessment; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26